Leptin and its receptor are essential for regulating food intake, energy expenditure, glucose
homeostasis and fertility. Mutations within leptin or the leptin receptor cause early-onset obesity
and hyperphagia, as described in human and animal models. The effect of both heterozygous and
homozygous variants is much more investigated than compound heterozygous ones. Recently, we
discovered a spontaneous compound heterozygous mutation within the leptin receptor, resulting in
a considerably more obese phenotype than described for the homozygous leptin receptor deficient
mice. Accordingly, we focus on compound heterozygous mutations of the leptin receptor and their
effects on health, as well as possible therapy options in human and animal models in this review.
| Identifer | oai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:89851 |
| Date | 15 February 2024 |
| Creators | Berger, Claudia, Klöting, Nora |
| Publisher | MDPI |
| Source Sets | Hochschulschriftenserver (HSSS) der SLUB Dresden |
| Language | English |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, doc-type:article, info:eu-repo/semantics/article, doc-type:Text |
| Rights | info:eu-repo/semantics/openAccess |
| Relation | 4475, 10.3390/ijms22094475 |
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